Week 5.1 Duchenne Muscular Dystrophy Flashcards
DMD is the most common…
x-linked recessive disorder
DMD is missing the
dystrophin protein
the dystrophin protein affects
skeletal and cardiac muscle
leads to myofibril damage
muscle hypoxia and fibrosis
DMD is typically diagnosed by
age 5
how is a medical diagnosis made
- by taking a history and physical exam
- ECG/echo
- elevated levels of creatine kinase (CK) in the blood (this is the enzyme that leaks out of damaged muscles)
- DNA analysis
- muscle biopsy
what are the sign and symptoms and impairments of DMD
- progressive weakness (neck, abs, inter scapular, hip extensors)
- enlarged calves (psuedohypertrophy)
- lordosis (APT and hip extensor weak)
- wide based gait and toe walking
- clumsiness
- Gower’s sign
- 30-40% have cognitive behavioral disorders
- scapular winging
- knee hyperextension and lack DF
Gower’s sign
rising from the floor using the arms as well
what is called pseudo hypertrophy
muscle fibers are replaced with fat and connective tissue
what is the progression of DMD
3-5 diagnosed
6-8 stair climbing
8-10 decrease vital capacity and falls
12: can’t walk
what is the lifespan of DMD
from late teens to early 20s/30s. health from cardiac or pulmonary muscle weakness.
what are the 4 medical interventions
genetic therapy research
steroid therapy
surgical management
BiPAP
what can steroid therapy do
prolong walking by 3 years, improve pulmonary function. but can cause weight gain, cataracts or osteoporosis
what is the surgical management for DMD
contractures and scoliosis
what are some activity and participation limitations
gait speed, running, rising from the floor,stairs, ADLs, keeping up with peers, family activities, school events, sporting and social events
Outcome measures and predictors for DMD
6MWT,
PEDI
school functional assessment (SFA)
